相关实验视频

Updated: Jun 19, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K

计算和实验分析致病性预测ACVRL1错误变体在遗传性出血长管切除症中的误解变体

Toru Iwasa1,2, Akihiro Urasaki1, Yuki Kakihana1

  • 1Department of Molecular Physiology, National Cerebral and Cardiovascular Center Research Institute, 6-1 Kishibe-Shimmachi, Suita, Osaka 564-8565, Japan.

Journal of clinical medicine
|August 12, 2023
PubMed
概括

预测导致ACVRL1变异的遗传性出血性长膜炎 (HHT) 需要计算和实验方法. 一些变异挑战了计算预测,突出了需要结合方法来准确评估HHT患者的致病性.

关键词:
在ACVRL1中使用.在ALK1中,ALK1是ALK1.在BMP中,BMP是BMP.这就是SMAD信号.遗传性出血性电脉切开症 (telangiectasia) 是一种遗传性出血性电脉切开症.

更多相关视频

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.0K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.7K

相关概念视频

Determinants of Bacterial Pathogenicity and Virulence01:20

Determinants of Bacterial Pathogenicity and Virulence

Pathogenic bacteria employ a variety of strategies to establish infections, including the secretion of extracellular enzymes that act as potent virulence factors. These enzymes facilitate bacterial colonization of host tissues and help evade immune surveillance. By targeting structural components of host tissues and interfering with immune mechanisms, these enzymes play a pivotal role in disease progression.Extracellular Enzymes Facilitating Tissue Invasion: Several bacterial pathogens secrete...